Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.
AffiliationDeparment of Neurology, Beaumont Hospital, Dublin, Ireland.
MetadataShow full item record
CitationRate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. 2010: J. Neurol. Neurosurg. Psychiatr.
JournalJournal of neurology, neurosurgery, and psychiatry
AbstractBackground The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. Method A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. Results 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. Conclusion The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.
Item TypeArticle In Press
- Prevalence of SOD1 mutations in the Italian ALS population.
- Authors: Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, Restagno G
- Issue date: 2008 Feb 12
- Familial amyotrophic lateral sclerosis in Alberta, Canada.
- Authors: Pfister T, Sekhon R, White M, Scott P, Munro S, Johnston M, Kalra S, Korngut L
- Issue date: 2013 May
- Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.
- Authors: van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM
- Issue date: 2010 May
- SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
- Authors: Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S
- Issue date: 2005 Jul
- TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
- Authors: Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, Shaw CE, Hortobagyi T, Al-Sarraj S
- Issue date: 2009 Dec